Piper Grace's Birth Story, Part 1

Preface

Wow.....it has been a while since I last blogged! It is not that I haven't wanted to, but life just got in the way. At first I didn't have any updates or anything exciting to blog about. Then I was extremely busy with work, and then the holidays, and then more work. Before I knew it I was going to the doctor's office for my 37 week check-up, which is where this story begins.....

You've Graduated!

I woke up on Friday February 1st, 2013 excited for my 37 week growth scan with the perinatolgist (doctor specializing in high risk pregnancies). My mother had just moved into her apartment the day before, and was coming to this appointment with me. She had temporarily moved to Charlotte in order to help me out with Piper because Court could only be here for a short amount of time. Since I wasn't due for a few more weeks, we had planned on spending the time prepping for Pippa's big debut and relaxing. Anyway, I couldn't wait for her to see the little one on the ultrasound that morning and then grab some lunch and go shopping. Like many things in life, however, the day did not go according to plans.

The appointment began like all the others.... the technician squirted the blue goop onto my belly and began clicking away. The anxious feelings I had from the first time I was in that room were a distant memory, replaced now by anticipation and pure excitement. She took measurements of Piper's head circumference, belly circumference, and femur length. With a couple more clicks she told me that LO's estimated weight was 5 pounds. Cue the return of anxiousness.

The technician then left the room to get the doctor so he could confirm her measurements and make his assessment. The moment she left the room, I turned to my mom and told her I was a bit worried. I knew that according to these measurements Pippa wasn't growing as much as she should be. My regular OB had told me she typically induces when growth starts to slow like this. I was scheduled to see her early the following week, so I thought that during that appointment she might decide to induce me earlier than the tentative date of February 15th we had set.

After a few nerve-wracking minutes, the doctor entered the room and repeated the same measurements the technician had took. He came up with a similar weight estimation, and without hesitation turned to me and said, "You are having this baby today!" It took about 10 seconds for the words to really sink in. As we were leaving the office, the doctor jested, "Congrats! You've graduated from here (perinatology)!"

Is This Really Happening?!

The next couple hours or so are a blur.... I remember driving home to gather my things and just saying, "Oh my God, oh my God!" It's funny how after months and months of anticipation, and even knowing that I would probably deliver early, I was not at all prepared for the news I just received. It was all I could do from not freaking out as I rushed around my apartment throwing the last minute items into my already half packed hospital bag. I took care of a few important things (including purchasing tickets for my sister and I to "The Package" tour, which had went on pre-sale that morning).

It was early afternoon when I finally arrived at the hospital. I was admitted and given a lovely hospital gown. The nurse hooked me up to a couple monitors... one measuring my contractions and the other Pippa's heartbeat. Suddenly it started to feel more and more real. My doctor came into the room a bit later and gave me the game plan, which slightly eased my mind about the immediacy of the situation. That night I was going to be given an insert of Cervadil. This would "ripen", or prepare, my cervix for the labor process. The next morning they would start the Pitocin, which is the drug that really kickstarts labor and contractions.

And so it began.

(To be continued in Part 2!)

The "R-Word"

You may have missed it, but in the news recently was this tweet made by Ann Coulter (see below) and the response from Special Olympian John Franklin Stephens. This really got me thinking about the use of the word “retard” in today’s society.

 

 

While I am not defending Ann’s comment or saying she wasn’t wrong in her choice of words, part of me wonders her actual intention in the phrase. Stop and think for a minute about how often you hear people (regretfully myself included) saying, “Oh, I am such a retard; I did blah, blah, blah wrong,” or “That assignment the teacher gave us is so retarded!”

 

This interchangeable use of the R-word for something we perceive as silly, stupid, or of the like, has become extremely pervasive in the vocabulary of today’s generation. Heck, even the Black Eyed Peas made a very popular song called “Let’s Get Retarded” (later retitled to the more radio friendly “Let’s Get it Started”).

 

Thinking about the aforementioned song, what is the underlying message? Simply, the BEPs are using “retarded” as a synonym for (extremely) intoxicated or going all out crazy /partying. These actions are characterized by a disregard and ignorance of consequences, incoherence, low coordination, and flat out inane behavior. Therefore, it can be reasoned that the BEPs are saying that people considered medically “retarded” have those characteristics. I doubt that the song writers purposefully intended to make fun of the cognitively impaired, but isn’t that exactly what the song does?

 

One can argue that it is just a figure of speech; that it is only slang. Those excuses are only half true, however, because it while it is slang it is also a form of hate speech. This might seem like an extreme assertion at first, but consider the definition of the term:

 

“Hate Speech is, outside the law, communication that vilifies (belittles, criticizes, etc.) a person or a group on the basis of color, disability, ethnicity, gender, nationality, race, religion, sexual orientation, or other characteristics” -From Wikipedia.

 

To me that pretty much describes the use of the R-word in today’s culture, which unfortunately has become so common that no one stops to think of the group it is disrespecting and demeaning. Intentional or not, it is a put-down to the intellectually disabled.

 

As I mentioned above, I have been guilty of using the R-word many times myself, and therefore I am not intending to criticize everyone that uses the term. I merely want to share my thoughts about something that I never took the time to consider until the issue hit close to home.

 

 

 

 

Honestly, deep down I have always known it (the R-word) wasn’t appropriate, considering I knew to filter my choice of words while in a professional setting. Regrettably I wasn’t so careful about using the term around other people. I look back and wonder how many people I might have inadvertently hurt by using the R-word, and wish I could apologize.

 

My hope for the future is that more people realize the hurt certain words can cause, even if they don’t mean them to. I will have to be an advocate for my daughter as well as help her become her own self-advocate. Does this mean I will call people out when I hear them use the R-word slangily? Maybe, maybe not…I suppose it depends on the situation.

 

What it does mean is I will at the very least modify my own language, and this is not limited to the R-word.

(Gay is another commonly used word used in a similar way).

 

 

 

Heart of the Matter, Part 2

The Echo

A few weeks ago I finally had the fetal echo(cardiogram) that I mentioned in my first Heart of the Matter post. The echo is simply a sonogram in which they look at the heart in detail.

My wonderful boyfriend was able to make it to this appointment, and I was very thankful for that. Since he lives so far away, this is only the second appointment he has been to. We knew the doctor could potentially tell us serious news about our daughter's heart, so there was a lot of anxiety walking into the ultrasound room....now a very familiar place to me.

As usual the technician began the appointment by squeezing the warm gel onto my ever growing baby bump. She picked up the wand, and in a few seconds little Pippa appeared up on the screen. The technician did her best to make us comfortable as she went about her assessment. The small talk was not enough to keep me from wondering what every click she made meant.

After about a half hour of taking all sorts of pictures and videos of our girl's heart, she left the room to get the doctor. He came in and picked up the wand, then began repeating a lot of the same things the technician did. As he was doing so, he and the technician exchanged medical talk that was beyond my understanding.

21 week sonogram... Pippa salutes!

Suddenly, I became very flush and lightheaded. I am not sure if it was the anxiety of the appointment, the now forty-five minutes of pushing and prodding by the sonogram wand, Pippa's kicks and punches back at the wand which was apparently disturbing her, or all the heat being generated by the equipment, but I felt as if I was about to either vomit or pass-out. The technician obviously noticed my discomfort, which I was trying to hide so the doctor could finish up. She began to fan me with a folder she was holding and I rolled onto my side a bit, which marginally alleviated some of my dizziness.

The doctor finished up quickly, and I slowly began to regain my composure. He then started to tell us what he had seen. Unfortunately, he didn't have any conclusive answers. The doctor told us he was suspicious based on what he saw that there was a heart defect, but the heart was still too small for him to be sure and make a definite diagnosis. He referred us to a pediatric cardiologist, and said we should schedule with him in approximately three weeks.

That appointment was on Friday.

Another Echo

It progressed very similarly to the first echo, although I was alone at this appointment. The faint feeling even returned about thirty to forty minutes into the echo. From this I conclude that anything over a half hour is too long for a sonogram. Luckily this time there was a tower fan in the room, and once this was turned on and pointed directly at me I felt tremendously better.

Unlike the first exam, however, the cardiologist had answers for me about what is going on with Pippa's heart. It was not the news I was hoping for, but the news I had been bracing myself for.

The Diagnosis

The doctor told me that based on what he saw, he is quite certain that Piper's heart has an AV Canal defect. As I mentioned in the first Heart of the Matter post, this is the most common heart defect in babies with Down syndrome. What this means is the septum of the heart (the part dividing the two left chambers and the two right chambers) is not complete. Also, there should be two separate valves between the top and bottom chambers (the atria and the ventricles), but due to the incomplete septum there is just one large valve. This defect allows for co-mingling of the blood returning from the body and the blood returning from the lungs.

 

Normal Four-Chamber Heart
 



Heart with AV Canal Defect



Pippa will need open heart surgery around two to six months in order to fix this defect, but the doctor explained that the defect will not affect the rest of my pregnancy or her birth. The doctor also assured me that the surgery has an extremely high success rate, and her Down syndrome will not increase the risk of the surgery.

Even so, I cannot help but be worried about what the future holds. I am trying to just relax and take it one day at a time, but the thought of my little girl undergoing such a serious surgery at such a young age terrifies me. I know that Piper Grace is a fighter already though, and she is strong like her momma. In the meantime, all I can do is stay calm and carry on.

The Emotional Roller Coaster

 

It is hard to believe that it has been about two and a half months since I learned of my little Pippa’s diagnosis. In that time I can’t begin to describe the emotional roller coaster that I have been on. It feels like I didn’t quite reach the line that says “You Must Be This Tall to Ride”, and that I never should have been allowed to board. Somehow I snuck on though.

The climb to the top of the track was the worst part.....butterflies swarmed in my stomach like the locusts in Egypt. The chain pulling the heavy cart to the apex made loud, mechanical clicks...but even they couldn't drown out the sound of my own heartbeat.

I knew there was still time to get off; all I had to do was just throw my hands in the air and say I wasn’t ready. In fact, whoever was operating the ride was probably expecting it. There are so many others who have seen the steep hills, loop-de-loops, and corkscrews turns in the track ahead, and decided to disembark.

But I couldn’t move from my seat. As terrified as I was, I knew I would carry regret far heavier than the fear I currently held if I didn’t continue on. So I stayed in my seat. The roller coaster surmounted the top, and in slow motion began to round the crest. Then, in a flash, it started to plummet towards the earth. Just as I thought I would never stop falling, the track bent back toward the sky and I was lifted back up. There was suddenly a feeling of weightlessness, freedom and exaltation.

 

Of course, in this somewhat cheesy analogy I am talking about the initial days following that fateful doctors appointment and my decision to continue on with the pregnancy. I experienced emotions I never knew I could feel, the most prevailing being grief. Although there was still a little growing bean inside me, I felt as if I had just lost her.

Some of the literature I found promised my feelings of bereavement were completely normal. But normal or not, it killed me inside to feel so sad when I really hadn’t lost anything but my paradigm of how life with a child was going to be...how my child was going to be.

Of course, there was one person I should have turned to for emotional support (my BF and wonderful father-to-be), but I couldn’t. How could I even parallel my grief to the tragedy he had experienced less than two years prior? He knows what it truly means to lose someone. I couldn't be selfish and expect him to be stronger than he could possibly be, and I couldn't think he could make my hurt go away when he had the same hurt, plus at least tenfold more of his own. So, after a long and emotionally charged weekend I realized that I needed to be steadfast in my own decision.

After this first dizzying week, I unexpectedly started to feel amazing. I was reassured by my friends and family that I was going to be a great mom. I told myself that so much good was going to come out of this. I reclaimed the joy of pregnancy. I began to believe that all was going to work out. So what if my daughter had Down syndrome? I loved her all the same, and nothing could change that.

I would be lying, however, to say I feel this way every minute of every day. Even though a lot of my posts present potential problems (whoa, alliteration!) matter-of-factly, I am actually skimming over the true depth of the anxiety I feel. It is not that I don't have an optimistic attitude, but it is a constant battle between my head and heart. The latter whispers reassurances, but the former shouts, "THIS IS GOING TO BE HARD....REALLY HARD!!"

So as much I want to believe that everything will be okay, there are so many moments that all of a sudden I realize I am at the top of another cloud-grazing hill, and gravity is about to take over.....

Like when I am laying on an exam table and the ultrasound tech is looking for a heart defect.

And when the doctor reminds me there is still a high risk of stillbirth.

And when I think about all the upcoming doctors appointments and therapy sessions.

And when I stress about how I will manage if my boyfriend is deployed for his job.

And when I imagine the stares of pity from strangers while I am at the grocery store.

And when I have to explain to my crying Pippa why the other kids are calling her names and won't play with her.

And when I will have to fight with school administrators to ensure my daughter is provided with the proper resources to learn.

Just when I think my head is going to explode with all these apprehensions, I feel a little kick inside me. It is a friendly little reminder that no matter what, I need to stay strong for my little angel. She is going to be depending on me, and I cannot let the “what-ifs” overrule what is.

And if there is one thing I know for sure, love is what it is and always will be. Pure, tangible, unfaltering, and completely blind love.

Hooray for Boobies! (& I don't mean the Bloodhound Gang album)

When faced with the choice of breast versus bottle, there isn’t much deliberation for me. Here are the extremely convincing factors in my decision:

• First and foremost, breast milk is one of the healthiest things you can do for your newborn. There are many all-important antibodies and nutrients passed from mother to child, especially in the first few days. (The extra-special milk produced right after birth is called colostrum, which is thicker and a yellowish hue).
• Of course, there is also the cost savings. If you've ever looked at the prices of formula at the store, you'll know that it is expensive!! I don’t get why anyone would want to spend the money on formula when they have a free supply of nutrition made right in their own body (unless of course there is a sound medical reason or a need to supplement).
• Convenience! How easy is it to just pop a boob into a baby’s mouth at 3 a.m. rather than have to stumble down to the kitchen, mix up the formula, and heat the bottle?
• Lastly, there is also the bonding experience. It is shown that the physcial contact has a postivive effect on babies, and helps them feel more secure. It can also help mothers who may suffer from post-partum depression.

I do have some concerns about being able to breastfeed, though. A common symptom of Down syndrome is hypotonia, or lack of muscle tone. The easiest way I've seen this described is that a baby will feel “floppy” in your arms.

According to my research, a baby with DS often has trouble learning how to suck properly due to hypotonia (since the muscles in and around the mouth are also affected). It typically takes more effort to start milk flow and maintain a latch during breastfeeding. Therefore babies with Down syndrome often have a difficult time getting enough milk. This can in turn affect a woman’s milk production, hence exacerbating the problem.

From all that I’ve read it is completely possible to overcome the difficulties. There are ways of holding the baby which can help mitigate low tone issues as the baby learns to nurse. Also, pumping is often necessary to ensure milk supply is adequate, and can also be used to help with starting milk flow before a nursing session.

Again, from what I’ve read and researched, pumping can be a little tricky at first, and it may be very time consuming. Having a high quality pump can certainly help alleviate any frustration, although they can be quite pricey! I was lucky enough to win the Medela Pump in Style, thanks to All About Baby Charlotte and the Nursing Mother's Place at Presbyterian Hospital.

Now it may sound really strange, but I can’t wait to use it!! (Mainly because that means I will finally be able to meet my little angel).

For mothers who have chosen to formula feed.... what made your decision?

Down Syndrome and Alzheimer's

Although there are more immediate concerns I have for my little girl’s health, Alzheimer’s disease is something else she may face in the future. Studies have shown that genes on the 21st chromosome contribute to the aging process, and therefore an extra copy of 21 increases the risk of a degenerative memory disease.

I am choosing to write about this today because there was a recent conference in Chicago where experts in both Down syndrome and Alzheimer’s met to discuss the link between the two afflictions. In a study funded by Johnson & Johnson, individuals with Down syndrome will be the focus of research since the occurrence of Alzheimer’s is much higher in people with DS (roughly 25% show signs by age thirty, with the rate increasing to as high as 75% with age). 

In the past the life expectancy of an individual with Down syndrome was not much past 30, so the connection was not as evident. Now that individuals are living into their 60s, scientists see an opportunity to study a disease that slowly steals people from their loved ones.

The hope is that by monitoring those with a high risk from an early age (before symptoms manifest), they may able to do better understand the progression and to prevent the causes of Alzheimer’s (brain plaques and tangles). You can read the full article here.

One of the questions posed in the article is if parents of adults with Down syndrome would be willing to sign them up for these studies. I think about what I would do, and I suppose it really depends on what the study would entail. Would it be diagnostics and observations, or more risky drug trials? Would you sign up your son or daughter to be studied?

October is Down Syndrome Awareness Month!

In the past years, Down syndrome is becoming better understood as the community strengthens and strives to educate others. Unlike in the seventies where those diagnosed with DS were commonly institutionalized, there is now a realization that with the proper therapies and care people with Down syndrome can lead fulfilling, productive, and “normal” lives.

There is still a long way to go, however, when you consider that 9 out of 10 babies diagnosed prenatally with Down syndrome are aborted. I firmly believe that this statistic is largely due to a lack of understanding and knowledge. I discuss some of my personal thoughts on this matter in my post, A Choice.

They bottom line is though, despite all the possible health problems and developmental delays a child with Down syndrome may have, they will overcome more than you can ever imagine. They will amaze you every day and bring more joy and love than you ever thought possible. I believe this, and my baby girl still has 20 weeks left in my belly.

 

So, in honor of Down Syndrome Awareness Month check out your local Buddy Walk, an advocacy event to promote the inclusion and acceptance of people with Down syndrome.

Also, check out this "Wall of Awesome" at Noah's Dad.com, which is a post where parents can share their wonderful stories about raising children with Down syndrome.

What Causes Down Syndrome?

One of the foremost questions in my mind when I first found out my baby’s diagnosis was, “How did this happen? Was it something I did?"

I know my boyfriend was thinking similar thoughts, and blaming himself since he has a cousin with Down syndrome. In fact, when the doctor was initially telling us about all the screening tests offered, I wasn’t quite sure I wanted any performed. My boyfriend insisted, however, since my insurance covered the tests and he didn’t have much faith in his genetic line. This concern was despite the doctor’s opinion that his cousin was a distant enough relation that it was highly unlikely the Down syndrome would be inherited.

 

Three Types of Down Syndrome 

 

What I didn’t know at the time, and what wasn’t explained until after I learned the diagnosis, was that there are actually three types of Down syndrome, or Trisomy 21: Nondisjunction, which accounts for approximately 95% of all cases; Mosaicism, which accounts for 2-3% of cases; and Translocation, which accounts for the remaining cases and is the only inheritable type. My little girl, like the majority of those with Down syndrome, has Nondisjunction Trisomy 21. The genetic counselor briefly explained to me that this is due to the failure of chromosome 21 to separate which results in 3 copies in the affected individual.

 

It wasn’t until I got back home and fired up Google (or maybe it was Bing), that I started to truly understand how this occurred. I needed to have answers, because I couldn’t help but blame myself for causing my daughter’s Down syndrome. After all, I had done quite a bit of drinking between my sister’s bachelorette party and wedding before I realized I was pregnant. I had convinced myself that this is what caused my baby girl’s extra 21st chromosome. It may sound strange, but somehow it was easier to take the blame instead of just admitting that things beyond my control will just happen. What I learned made me realize that nothing I did caused the Down syndrome; it was then I began to truly accept the diagnosis.

  

Cause of Nondisjunction Trisomy 21

 

(This is the part of the post that seriously starts to nerd-out, so bear with me).

 

Rather than try to narrate the entire process which results in Down syndrome, I created a few diagrams based on my research. I tried to keep it as simple as possible, because most of us took biology a loooooong time ago (and probably don’t remember much about the following processes). Anyway, the following 3 diagrams depict how reproductive cells (sperm and ova) are formed. The first shows the normal division of the cells, and the next two show division of cells with nondisjunction (which causes Down syndrome).

 

You will see that the determination of Trisomy 21 occurs before fertilization. Researchers have yet been able to determine why this happens, although there is a link with maternal age. Oh, and just in case you forgot, a human should have 46 chromosomes total, 23 from each parent.

Here is how sperm/egg cells are normally produced (colored circles are the cells, and the number inside represents the total number of chromosomes):



It isn't really important for the purposes of this explanation, but notice that in the normal production of sperm cells, 4 gametes (sperm) are produced from the initial parent cell. This is in contrast to ova production, in which only 1 gamete (ovum) and 3 polar bodies (basically junk material) are produced from the parent cell.

These next two diagrams show the production of sperm/egg cells which will result in Down syndrome:



In the above representation, all of the resulting gametes are affected. However, only the ones with the extra chromosomes (24) are likely to produce a viable pregnancy. The child will be affected with Down syndrome.




In the above representation, half of the resulting gametes are affected. Again, only the ones with the extra chromosomes (24) are likely to produce a viable pregnancy and the child will be affected with Down syndrome.



Understand now?

A couple notes I would like to add.... Nondisjunction occurs 85-90% of the time during oogenesis, which means that the majority of Trisomy 21 cases are due to an extra chromosome from the mother. Also, I mentioned below the pictures that the lack of a chromosome would not likely produce a sustainable pregnancy. This is true in regard to the 21st chromosome. However, a pregnancy can be carried full term if the nondisjunction occurs to the 18th chromosome and the gamete with the missing chromosome is fertilized. This is called Turner's syndrome.

So what about the other types of Down syndrome?

Mosaicism occurs after fertilization when the cells begin to divide and multiply. Some of the cell divide normally, and some of them don’t. This results in an individual having some cells with the normal 46 chromosomes, and some with an extra copy of the 21st chromosome.

Translocation, as I mentioned earlier, was the only inheritable type of Down syndrome (although it can occur sporadically as well). When it is inherited, a parent carries a translocated chromosome; in the case of Down syndrome this means one of the chromosomes from the 21st pair is attached to another chromosome, usually the 14th. Even though the chromosome is in the wrong spot, the parent still has the correct number of chromosomes and therefore does not have Down syndrome. However, during meiosis this translocated 21st chromosome is copied along with the 14th into the gamete, which results in Down syndrome. The individual will have a normal pair of the 21st chromosome, and third copy attached to chromosome 14.

I also will point out that all types of Down syndrome affect an individual the same way, and only a genetic test can positively identify which type an individual has.

Phew…. I hope all that makes sense! I apologize for the technical nature of this post, but I wanted to share with those that were curious how Down syndrome actually occurs. Also, if you know someone with Down syndrome or who is about to become a parent of a child with Down syndrome, you will now have some knowledge of the causes.

A Short Story

Someone posted this story on a Facebook group for parents of children with Down syndrome, and I had to share it on here. I hope you all enjoy!

 

GOD CHOOSES A MOM FOR A DISABLED CHILD

by Erma Bombeck

Most women become mothers by accident, some by choice, a few by social pressures, and a couple by habit. This year, nearly 100,000 women will become mothers of disabled children. Did you ever wonder how mothers of disabled children are chosen ?

Somehow, I visualize God hovering over Earth selecting his instruments for propagation with great care and deliberation. As he observes, he instructs his angels to make notes in a giant ledger.

“Armstrong, Beth; son; patron saint, Matthew.”

“Forrester, Marjorie; daughter; patron saint, Cecelia.”

“Rudledge, Carrie; twins; patron saint… give her Gerard. He’s used to profanity.”

Finally, he passes a name to an angel and smiles, “Give her a disabled child.”

The angel is curious. “Why this one, God ? She’s so happy.”

“Exactly,” smiles God.

“Could I give a disabled child a mother who does not know laughter ? That would be cruel.”

“But has she patience ?” asks the angel.

“I don’t want her to have too much patience or she will drown in a sea of self-pity and despair. Once the shock and resentment wears off, she’ll handle it. I watched her today. She has that feeling of self and Independence. She’ll have to teach the child to live in her world and that’s not going to be easy.”

“But, Lord, I don’t think she even believes in you.”

God smiles. “No matter. I can fix that. This one is perfect. She has just enough selfishness.”

The angel gasps, “Selfishness ? Is that a virtue ?”

God nods. “If she can’t separate herself from the child occasionally, she’ll never survive. Yes, there is a woman I will bless with a child less then perfect. She doesn’t realize it yet, but she is to be envied. She will never take for granted a ‘spoken word.’ She will never consider a ‘step’ ordinary. When her child says ‘Momma’ for the first time, she will be present at a miracle and know it ! When she describes a tree or a sunset to her child, she will see it as few people ever see my creations.

I will permit her to see clearly the things I see — ignorance, cruelty, prejudice — and allow her to rise above them. She will never be alone. I will be at her side every minute of every day of her life because she is doing my work as surely as she is here by my side.”

“And what about her patron saint ?” asks the angel, his pen poised in midair.

God smiles. ” A mirror will suffice.”

Heart of the Matter

Walking into my most recent doctor’s appointment all I could think was, “What if he sees something wrong? Will my baby need to have open heart surgery? Will she be okay….? Will her heart be strong enough for her to make it full-term and through delivery?”

Cause for Concern

Now I wasn’t just being crazy and worrying for no reason. After finding out my daughter’s diagnosis, I started looking up all the information I could as what it (Down syndrome) would actually mean for her life. Sadly, most of what I knew about Down syndrome is what I learned from TV shows. I knew certain physical characteristics such as upward slanted eyes and shorter statures, and of course I was aware of the developmental delays. The more I read, the more concerned I became. Not about the challenges of raising a child with DS, but about her health in general.

One of the more serious issues she could possibly face is a heart defect. Approximately 50% of all children with Down syndrome have some type of heart problem, the most common being an AV canal defect (atrioventrucular septal defect). This is basically a hole in the heart between two of the chambers, an atria and a ventricle. Holes can occur in other places within the heart as well, and each is termed differently (ASD, or atrial septal defects; VSD, or ventricular septal defect; and PSD, or patent ductus arteriosus). The treatment depends on the size of the hole. Children may need surgery, or if the defect is minor then it is monitored as the hole may close on its own.

Since my doctors are well aware of the possible congenital heart problems associated with Down syndrome, they are doing all they can to determine prenatally if there are any complications. Around 16 weeks, I had an appointment for a Level 2 ultrasound, where they looked at all my baby’s anatomy in detail to ensure everything is developing as it should be. More importantly they were looking at the heart for any indications of problems. As I revealed in the opening sentence of this post, I can’t even begin to describe how nervous I was walking into that appointment. I knew so much of my daughter’s future could be based on what the doctor saw that day.

The Appointment

So there I was, laying on the table with my shirt pulled up. The technician came in and squeezed a blob of blue goo onto my little bump. Within seconds, I saw my little peanut up on the screen. I was simply amazed at the sight and was filled with “warm fuzzies". I tried my best to keep those feelings and not let my nervousness overtake me as she started the diagnostic portion of the ultrasound. She did some of the same wiggling, clicking, and measuring that she did at my 12 week appointment, but this time her reactions were much more what I had been hoping for. The arms and legs were proportionally as they should be. There were ten fingers and ten toes. There were two itty bitty kidneys. The facial structure was developing normally. Then she zoomed in for a look at my little girl’s heart, and I could see the tiny muscle pumping away. It looked beautiful to me, but of course I had no idea what a defect would look like.

I glanced at the technician, but she had a poker face this time and I could not gauge by her reaction what she was seeing. She gently excused herself, and momentarily returned with the doctor. He scooted the stool over to the table where I was laying and picked up the little wand that determined so much of the future. The wiggling commenced and soon he was zoomed in on the heart. He clicked a couple times, froze the picture, and began to explain what was on the screen. The doctor pointed out the valves in the heart, and noted that they fully touched each other during this point of the heart beat (which the image was paused on). That was a great thing!!

 



Pippa at 16 weeks

 Sigh of Relief

Based on the ultrasound, the chances of a major heart defect are greatly reduced. The doctor reminded me that the heart is still quite small, and they weren’t able to see everything yet. I will have one of these detailed ultrasounds at every appointment (about once a month), and around 24 weeks the doctor will perform a fetal echo in order to listen for any murmurs that may not be visible on the ultrasound. Although there is still a possibility that my baby’s heart will have an issue, I know I will be much less nervous walking into these future appointments. The bright side to all these appointments is that I have the opportunuity to see my little nugget every time!

My Mission Statement

Although I have already written a couple posts, I would like to introduce this blog in a more proper manner. The subtitle pretty much says it all; I will be writing about my pregnancy and eventually about raising a child with Down syndrome. If you have read my first two entries you know they were very personal and ventured into some deep emotions. Not every post will be that way…I want to be able to capture all aspects of this journey. In the future expect ramblings that reflect elation and joy, fear and apprehension, silliness and lightheartedness. Above all each one will be honest about my experiences in hopes to inspire, educate, or just entertain. Thank you for taking the time to visit my page; I hope you will return and follow me on my adventure into parenthood!

Much Love,

Meghan

A song I feel is quite appropriate :)

A Choice?

I will start this post off by offering one more statistic:


Over 90% of babies diagnosed prenatally with Down syndrome are terminated

Abortion?

I don’t know about you, but my stomach literally turned when I read that fact. It just didn’t seem like it could be real…but sadly it is. I am not here to argue the basic premise of pro-life or pro-choice, because I do believe there are situations where woman should be given full control over their own bodies. What does bother me is that 90% had already made the choice to continue the pregnancy.

I make this assumption because a CVS to confirm diagnosis of Down syndrome is performed around 11-13 weeks, or an amniocentesis is performed around 15-18 weeks. If those women didn’t want the baby I doubt they would even be that far along in the pregnancy, or for that matter even be undergoing the tests in the first place.

So why if they had previously chosen life, do they suddenly decide that life wasn’t worth a chance anymore? Of course I can’t answer this question myself, but I do have a theory. Their image of the perfect family, perfect children, and perfect world has been invaded. Thoughts of anguish and sorrow have surrounded them. Preconceptions of what a child with Down syndrome will be ambush their conscience and reason, and they forget that first and foremost she will still be just a child…their child.

Of course, I am not going to pretend it is the easiest path to walk down. There will be unique hardships to face, but there will also be unique joys to experience...ones that will make the hours spent in physical and occupational therapy worth every minute. In fact, these therapies sessions can be a fun and wonderful bonding experience with your child, and the pride felt when she reaches a goal will be indescribable. Or so I’ve been told (read... check out Noah's Dad).

Perfection?

The thing I ask then is, what guarantee did these women ever have to believe their child would be perfect? If a doctor could tell them in advance that their child will have colic, severe allergies, juvenille diabetes, a lisp, a birthmark covering a large portion of the face/body, or be anything other than society’s view of "perfect", would they terminate the pregnancy? This may seem like a silly analogy, but isn’t that pretty much what they are doing? The doctor says Down syndrome, but what they hear she will never be be "perfect". I think they are afraid she will look different and never go to prom, go to college, get married, or be view society’s view of successful.

Therein lays the problem. Who says she will never do these things? These are imaginary limits placed on the Down syndrome community that are only bolstered by society’s perpetuation of them. I may be new to this world, but I am determined that my daughter will not be held back because people tell her she can’t do something. I realize that some of those things may not be the norm, but nothing is impossible. In the words of Ralph Waldo Emerson,

“To laugh often and much;

To win the respect of intelligent people

and the affection of children;

To earn the appreciation of honest critics

and endure the betrayal of false friends;

To appreciate beauty, to find the best in others;

To leave the world a bit better, whether by a healthy child,

a garden patch or a redeemed social condition;

To know even one life has breathed easier because you have lived.

This is to have succeeded.”

[I do want to point out that I am ignoring some specific health concerns of babies with Down syndrome; for example, approximately 50% of babies will have some type of heart defect. However, according to my research and discussions with the doctor these conditions are either treatable by surgery, will just need to be monitored, or will resolve on their own. Again I ask though, what guarantee did these mothers have that any other child wouldn’t face some type of health issue? Also, there may be an argument of additional financial burden. However, I have found through my research that most states have sponsored early-intervention programs. In addition there are supplementary insurance options which are not always income based, or based on income levels well above what typical welfare-type programs are based on].

The Beginning

I would like to kick off this blog by throwing out a few random odds, taken from Funny2.Com: 

1 in 280,000 = Being struck by lightening
1 in 11,500 = Bowling a 300 game (not Wii bowling, of course)
1 in 5,000 = Getting a hole in one
1 in 19,556 = Incurring injury from fireworks

 Interestingly enough, I or someone close to me have known someone personally who have been that “1” above……clearly defying all odds. So here is one more statistic taken from another website, which is the inspiration for the title of this blog: 

1 in 1000 = A mother of 30 conceiving a child with Down syndrome

In retrospect it doesn’t seem so impossible that I am that “1” this time.

The fact is though that barely a week ago I never once thought that my baby would be born with an extra chromosome. I had been greatly anticipating my 12 week appointment, at which was scheduled an NT scan. I was excited at a chance of being able to actually see my little one on the sonogram and hear the heartbeat, as opposed to just a little blob which the technician told me was a baby. And that is exactly how the appointment started….

I saw my little baby dancing around on the screen, waving, sucking her little thumb. I heard her heart beating at a strong 168 beats per minutes. Lying back with an amazing feeling of love, the technician started into the the true purpose of why I was there. Of course I had no worries. She wiggled the wand across my belly and was clicking away on the screen. I watched her move a cursor, measuring the fluid behind the baby’s neck. I watched her face briefly show a moment of concern. She wiggled, clicked, measured again. Then the words came, and I immediately knew that something wasn’t right. She excused herself from the room and told me she was going to get the doctor.

From that point forward, everything was surreal. The doctor also wiggled, clicked and measured….. He calmly explained to me what they were seeing. The fluid behind the baby’s neck was measuring at 3.7mm. According to the doctor, at my baby’s gestational age the maximum they would prefer to see is 3.00mm. Ideally, however, it would be much less. The amount of fluid immediately raised the risk of a chromosomal disorder to high.

The doctor also was detecting a hygroma, a fluid-filled cyst, on the back of the baby’s head. He told me approximately 60% of the time these are caused by a chromosomal abnormality. Between these two things he saw on the sonogram, the doctor was quite certain my baby had a genetic syndrome. He offered a test that could tell me with over 99% accuracy. I did not hesitate to say yes. I will not go into the details of the what the CVS involved, but I will say it was a terrifying. Especially because I was alone, and probably more so because deep down I already knew what the results would be.

Two days later, I received a phone call from the genetic counselor. She confirmed my baby has Down syndrome. I let go of the small sliver of hope I was holding onto, and so begins this journey. It is one I am not quite sure I am prepared for, but one I am willing to embark on.